Condition: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES
rs587777855
in
FOXP1
gene and
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES
PMID 26647308
2016 Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.
PMID 20950788
2010 De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment.
PMID 28741757
2017 Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders.